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Blue nevus

MedGen UID:
104930
Concept ID:
C0206736
Neoplastic Process
Synonym: Jadassohn's blue nevus
SNOMED CT: Blue nevus (63166000); Jadassohn's blue nevus (63166000); Dermal melanocytoma (63166000); Blue nevus of skin (254806009)
 
HPO: HP:0100814
Monarch Initiative: MONDO:0006680

Definition

An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. [from NCI]

Conditions with this feature

Intellectual disability, autosomal dominant 53
MedGen UID:
1623344
Concept ID:
C4540481
Mental or Behavioral Dysfunction
Suleiman-El-Hattab syndrome
MedGen UID:
1738652
Concept ID:
C5436458
Disease or Syndrome
Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019).
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Yaman B, Kandiloğlu G, Kumbaraci BS, Akalin T
Turk Patoloji Derg 2015;31(2):89-94. doi: 10.5146/tjpath.2014.01296. PMID: 25690862
Holsinger FC, Hafemeister AC, Hicks MJ, Sulek M, Huh WW, Friedman EM
Ear Nose Throat J 2010 Nov;89(11):534-40. PMID: 21086277
González-Cámpora R, Galera-Davidson H, Vázquez-Ramírez FJ, Díaz-Cano S
Pathol Res Pract 1994 Jun;190(6):627-35. doi: 10.1016/S0344-0338(11)80402-4. PMID: 7984522

Recent clinical studies

Etiology

de la Fouchardiere A
Pathology 2023 Mar;55(2):187-195. Epub 2022 Dec 28 doi: 10.1016/j.pathol.2022.12.342. PMID: 36641378
Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Eichenfield DZ, Cotter D, Thorson J, Hinds B, Sun BK
J Cutan Pathol 2019 Feb;46(2):130-133. Epub 2018 Nov 19 doi: 10.1111/cup.13373. PMID: 30315589
Sugianto JZ, Ralston JS, Metcalf JS, McFaddin CL, Smith MT
Semin Diagn Pathol 2016 Jul;33(4):219-24. Epub 2016 Apr 19 doi: 10.1053/j.semdp.2016.04.006. PMID: 27199078
Murali R, McCarthy SW, Scolyer RA
Adv Anat Pathol 2009 Nov;16(6):365-82. doi: 10.1097/PAP.0b013e3181bb6b53. PMID: 19851128

Diagnosis

Zembowicz A
Clin Lab Med 2017 Sep;37(3):401-415. Epub 2017 Jul 4 doi: 10.1016/j.cll.2017.05.001. PMID: 28802492
Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Singh AD, Schoenfield LA, Bastian BC, Aziz HA, Marino MJ, Biscotti CV
Surv Ophthalmol 2016 Jan-Feb;61(1):59-64. Epub 2015 Aug 12 doi: 10.1016/j.survophthal.2015.07.005. PMID: 26277063
Longo C, Scope A, Lallas A, Zalaudek I, Moscarella E, Gardini S, Argenziano G, Pellacani G
Dermatol Clin 2013 Oct;31(4):637-47, ix. Epub 2013 Aug 23 doi: 10.1016/j.det.2013.07.001. PMID: 24075551
Campos-do-Carmo G, Ramos-e-Silva M
Int J Dermatol 2008 Jul;47(7):712-9. doi: 10.1111/j.1365-4632.2008.03556.x. PMID: 18613881

Therapy

Zhou J, Zhao Z, Sun T, Liu W, Yu Z, Liu J, Yu Y, Ning S, Zhang H
Am J Gastroenterol 2021 May 1;116(5):1044-1052. doi: 10.14309/ajg.0000000000001117. PMID: 33416235
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M
Dig Liver Dis 2019 Nov;51(11):1537-1546. Epub 2019 Jul 26 doi: 10.1016/j.dld.2019.04.020. PMID: 31358484
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY
World J Gastroenterol 2014 Dec 7;20(45):17254-9. doi: 10.3748/wjg.v20.i45.17254. PMID: 25493043Free PMC Article
Nakamura Y, Shibata-Ito M, Nakamura Y, Ishitsuka Y, Fujisawa Y, Kawachi Y, Otsuka F
Pediatr Dermatol 2012 Sep-Oct;29(5):651-5. Epub 2012 Jan 26 doi: 10.1111/j.1525-1470.2011.01662.x. PMID: 22277073
Pathak MA
Skin Pharmacol 1991;4 Suppl 1:85-94. doi: 10.1159/000210987. PMID: 1764252

Prognosis

Griewank KG, Müller H, Jackett LA, Emberger M, Möller I, van de Nes JA, Zimmer L, Livingstone E, Wiesner T, Scholz SL, Cosgarea I, Sucker A, Schimming T, Hillen U, Schilling B, Paschen A, Reis H, Mentzel T, Kutzner H, Rütten A, Murali R, Scolyer RA, Schadendorf D
Mod Pathol 2017 Jul;30(7):928-939. Epub 2017 Apr 14 doi: 10.1038/modpathol.2017.23. PMID: 28409567Free PMC Article
Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Phadke PA, Zembowicz A
Clin Lab Med 2011 Jun;31(2):345-58. doi: 10.1016/j.cll.2011.03.011. PMID: 21549247
Anderco D, Lazăr E, Tăban S, Miclea F, Dema A
Rom J Morphol Embryol 2010;51(3):555-7. PMID: 20809037
Barnhill RL, Gupta K
Clin Dermatol 2009 Nov-Dec;27(6):564-87. doi: 10.1016/j.clindermatol.2008.09.015. PMID: 19880044

Clinical prediction guides

de la Fouchardiere A
Pathology 2023 Mar;55(2):187-195. Epub 2022 Dec 28 doi: 10.1016/j.pathol.2022.12.342. PMID: 36641378
Borgenvik TL, Karlsvik TM, Ray S, Fawzy M, James N
ANZ J Surg 2017 May;87(5):345-349. Epub 2017 Mar 20 doi: 10.1111/ans.13946. PMID: 28318130
Simons SA, Bridge JA, Leon ME
Semin Diagn Pathol 2016 Mar;33(2):91-103. Epub 2015 Sep 10 doi: 10.1053/j.semdp.2015.09.010. PMID: 26585346
Loghavi S, Curry JL, Torres-Cabala CA, Ivan D, Patel KP, Mehrotra M, Bassett R, Prieto VG, Tetzlaff MT
Mod Pathol 2014 Nov;27(11):1468-78. Epub 2014 Apr 18 doi: 10.1038/modpathol.2014.62. PMID: 24743221
Mehregan DA, Mehregan AH
Arch Dermatol 1993 Mar;129(3):328-31. PMID: 8447669

Recent systematic reviews

Wong XL, Phan K, Rodríguez Bandera AI, Sebaratnam DF
J Paediatr Child Health 2019 Feb;55(2):152-155. Epub 2018 Dec 18 doi: 10.1111/jpc.14345. PMID: 30565378

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